Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

E. Stogmann; P. Lichtner; C. Baumgartner; S. Bonelli; E. Assem-Hilger; F. Leutmezer; M. Schmied; C. Hotzy; T. M. Strom; T. Meitinger; F. Zimprich; A. Zimprich

doi:10.1212/01.wnl.0000250254.67042.1b

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

E. Stogmann, P. Lichtner, C. Baumgartner, S. Bonelli, E. Assem-Hilger, F. Leutmezer, M. Schmied, C. Hotzy, T. M. Strom, T. Meitinger, F. Zimprich, A. Zimprich

Medicine and Health

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Abstract

We sequenced 61 patients with various idiopathic generalized epilepsy (IGE) syndromes for mutations in the EFHC1 gene. We detected three novel heterozygous missense mutations (I174V, C259Y, A394S) and one possibly pathogenic variant in the 3′ UTR (2014t>c). The mutation I174V was also detected in 1 of 372 screened patients with temporal lobe epilepsy. We conclude that mutations in the EFHC1 gene may underlie different types of epilepsy syndromes.

Original language	English
Pages (from-to)	2029-2031
Number of pages	3
Journal	Neurology
Volume	67
Issue number	11
DOIs	https://doi.org/10.1212/01.wnl.0000250254.67042.1b
State	Published - Dec 2006

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title = "Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations",

abstract = "We sequenced 61 patients with various idiopathic generalized epilepsy (IGE) syndromes for mutations in the EFHC1 gene. We detected three novel heterozygous missense mutations (I174V, C259Y, A394S) and one possibly pathogenic variant in the 3′ UTR (2014t>c). The mutation I174V was also detected in 1 of 372 screened patients with temporal lobe epilepsy. We conclude that mutations in the EFHC1 gene may underlie different types of epilepsy syndromes.",

author = "E. Stogmann and P. Lichtner and C. Baumgartner and S. Bonelli and E. Assem-Hilger and F. Leutmezer and M. Schmied and C. Hotzy and Strom, {T. M.} and T. Meitinger and F. Zimprich and A. Zimprich",

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AU - Stogmann, E.

AU - Lichtner, P.

AU - Baumgartner, C.

AU - Bonelli, S.

AU - Assem-Hilger, E.

AU - Leutmezer, F.

AU - Schmied, M.

AU - Hotzy, C.

AU - Strom, T. M.

AU - Meitinger, T.

AU - Zimprich, F.

AU - Zimprich, A.

PY - 2006/12

Y1 - 2006/12

N2 - We sequenced 61 patients with various idiopathic generalized epilepsy (IGE) syndromes for mutations in the EFHC1 gene. We detected three novel heterozygous missense mutations (I174V, C259Y, A394S) and one possibly pathogenic variant in the 3′ UTR (2014t>c). The mutation I174V was also detected in 1 of 372 screened patients with temporal lobe epilepsy. We conclude that mutations in the EFHC1 gene may underlie different types of epilepsy syndromes.

AB - We sequenced 61 patients with various idiopathic generalized epilepsy (IGE) syndromes for mutations in the EFHC1 gene. We detected three novel heterozygous missense mutations (I174V, C259Y, A394S) and one possibly pathogenic variant in the 3′ UTR (2014t>c). The mutation I174V was also detected in 1 of 372 screened patients with temporal lobe epilepsy. We conclude that mutations in the EFHC1 gene may underlie different types of epilepsy syndromes.

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U2 - 10.1212/01.wnl.0000250254.67042.1b

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SN - 0028-3878

VL - 67

SP - 2029

EP - 2031

JO - Neurology

JF - Neurology

IS - 11

ER -

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

Abstract

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